Fukutin Related Protein (FKRP)

LGMD2I; MDC1C

FKRP encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.

Fukutin is a protein associated with Fukuyama congenital muscular dystrophy.It has also been associated with dilated cardiomyopathy.The protein is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle.